Variant report

Variant	rs4768239
Chromosome Location	chr12:40768582-40768583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40768243..40769926-chr12:40782774..40784277,2	K562	blood:
2	chr12:40730058..40730795-chr12:40768301..40769589,4	MCF-7	breast:
3	chr12:40718929..40719819-chr12:40768166..40769419,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11175780	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs1122621	1.00[JPT][hapmap]
rs1122863	1.00[JPT][hapmap]
rs11564109	1.00[JPT][hapmap]
rs11564129	0.83[GIH][hapmap]
rs11564172	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11835808	1.00[JPT][hapmap]
rs1427262	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492329	1.00[JPT][hapmap]
rs17128391	1.00[JPT][hapmap]
rs17128401	1.00[JPT][hapmap]
rs17444306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444709	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466886	1.00[ASN][1000 genomes]
rs17529964	1.00[JPT][hapmap]
rs17533153	1.00[JPT][hapmap]
rs17589334	1.00[JPT][hapmap]
rs17599001	1.00[JPT][hapmap]
rs17599042	1.00[JPT][hapmap]
rs17599666	1.00[JPT][hapmap]
rs17600388	1.00[JPT][hapmap]
rs2404834	0.91[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs2896981	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33962975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423250	1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap]
rs4767983	1.00[JPT][hapmap]
rs4768246	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768291	1.00[JPT][hapmap]
rs7309042	1.00[JPT][hapmap]
rs73094979	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107108	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73107149	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315186	1.00[JPT][hapmap]
rs7959536	1.00[JPT][hapmap]
rs7960976	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv2761734	chr12:40764769-40776064	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40764600-40769800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:40767600-40768800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links